NM_002778.4(PSAP):c.623T>G (p.Ile208Ser) AND Metachromatic leukodystrophy

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 11, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001272678.1

Allele description [Variation Report for NM_002778.4(PSAP):c.623T>G (p.Ile208Ser)]

NM_002778.4(PSAP):c.623T>G (p.Ile208Ser)

Gene:

PSAP:prosaposin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

Preferred name:

NM_002778.4(PSAP):c.623T>G (p.Ile208Ser)

HGVS:

NC_000010.11:g.71828111A>C
NG_009301.1:g.28215T>G
NM_001042465.3:c.623T>G
NM_001042466.3:c.623T>G
NM_002778.4:c.623T>GMANE SELECT
NP_001035930.1:p.Ile208Ser
NP_001035931.1:p.Ile208Ser
NP_002769.1:p.Ile208Ser
NC_000010.10:g.73587868A>C
NM_002778.2:c.623T>G
NM_002778.3:c.623T>G

Protein change:

I208S

Links:

dbSNP: rs200319381

NCBI 1000 Genomes Browser:

rs200319381

Molecular consequence:

NM_001042465.3:c.623T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042466.3:c.623T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002778.4:c.623T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Metachromatic leukodystrophy (MLD)
Synonyms:: Metachromatic leukoencephalopathy; Sulfatide lipidosis; Cerebral sclerosis diffuse metachromatic form; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018868; MedGen: C0023522; Orphanet: 512; OMIM: 250100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001454917	Natera, Inc.	no assertion criteria provided	Likely benign (Nov 11, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001454917

Natera, Inc.

no assertion criteria provided

Likely benign
(Nov 11, 2019)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV001454917.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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