ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.3034C>T (p.Pro1012Ser)

gnomAD frequency: 0.00239  dbSNP: rs113374262
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000965602 SCV000567783 likely benign not provided 2020-09-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000965602 SCV001112873 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000965602 SCV002822636 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing LRPPRC: BP4, BS1
Ambry Genetics RCV002526550 SCV003733517 uncertain significance Inborn genetic diseases 2021-06-21 criteria provided, single submitter clinical testing The c.3034C>T (p.P1012S) alteration is located in exon 28 (coding exon 28) of the LRPPRC gene. This alteration results from a C to T substitution at nucleotide position 3034, causing the proline (P) at amino acid position 1012 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828499 SCV002076555 likely benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-01-19 no assertion criteria provided clinical testing

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