ClinVar Miner

Submissions for variant NM_001097577.3(ANG):c.38T>C (p.Val13Ala)

gnomAD frequency: 0.00001  dbSNP: rs200240901
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001112906 SCV001270620 uncertain significance Amyotrophic lateral sclerosis type 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV005093515 SCV005774376 uncertain significance not provided 2024-05-20 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 13 of the ANG protein (p.Val13Ala). This variant is present in population databases (rs200240901, gnomAD 0.006%). This missense change has been observed in individual(s) with Parkinson disease (PMID: 22190368). This variant is also known as V(-12)A. ClinVar contains an entry for this variant (Variation ID: 882865). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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